ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.92dup (p.Asp32fs)

dbSNP: rs1566174147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000722027 SCV000853204 pathogenic Retinoblastoma 2016-08-05 criteria provided, single submitter clinical testing This is a frameshift alteration in which an A is duplicated at coding position 92 and is predicted to change an Aspartic Acid to a Glycine at codon 32, shift the reading frame and result in a premature stop codon 17 amino acids downstream.

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